Duchenne Muscular Dystrophy (DMD)

What is DMD?
Duchenne Muscular Dystrophy (DMD) is a genetic condition characterized by progressive muscle weakness and atrophy which primarily affects the skeletal and heart muscles. More information about DMD may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy

What is the prevalence of DMD?
DMD is the most common childhood onset form of muscular dystrophy and affects males almost exclusively. The birth prevalence is estimated to be 1 in every 3,500 live male births.

How is DMD diagnosed?
DMD is diagnosed based on clinical evaluation, patient history, and genetic tests.

Is there any specific gene/pathway in DMD that has been identified?
DMD is caused by mutations of the DMD gene located on the X chromosome (Xp21.2).

How is DMD treated?
Treatments are aimed at the specific symptoms of individuals. Options include physical therapy, exercise, and in some cases, surgery. More information on treatment may be found here: https://rarediseases.org/rare-diseases/duchenne-muscular-dystrophy/

Are there any clinical trials underway for DMD?
The National Institutes of Health (NIH) has completed 237 clinical trials for DMD. Currently, there are 83 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=duchenne&Search=Apply&recrs=b&recrs=a&recrs=f&recrs=d&age_v=&gndr=&type=&rslt=

How can RareShare be helpful to DMD patients and families?
The DMD community has 18 members. There are currently 2 active discussions underway. New discussions can help to connect patients, health workers, caregivers and families interested in DMD and provide them continual access to community resources.